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An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa
Generalised osteoarthritis (OA) is a common disorder of the joints which can lead to pain and disability. Identification of the determinant gene(s) is limited in part by the lack of Mendelian inheritance in most forms of the disorder, the combination of genetic and environmental influences and the l...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2017
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| _version_ | 1867613829661196288 |
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| access_status_str | Open Access |
| author | Ballo, Robea |
| author2 | Beighton, Peter |
| author_browse | Ballo, Robea Beighton, Peter |
| author_facet | Beighton, Peter Ballo, Robea |
| author_sort | Ballo, Robea |
| collection | Thesis |
| description | Generalised osteoarthritis (OA) is a common disorder of the joints which can lead to pain and disability. Identification of the determinant gene(s) is limited in part by the lack of Mendelian inheritance in most forms of the disorder, the combination of genetic and environmental influences and the late development of the condition. An approach to the investigation of the aetiology of OA would be to take advantage of the monogenic basis of inherited skeletal dysplasias in which OA is a major component. For this reason, the molecular genetic basis of the epiphyseal dysplasias, which encompass a spectrum of phenotypes ranging from mild to severe skeletal involvement, is addressed in this thesis. Familial skeletal disorders in South Africa in which OA is a major feature were identified and investigated using intragenic and closely linked microsatellite markers in order to determine linkage to candidate genes. Mutational analysis was undertaken to identify the genetic defect. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/26327 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:42:22.312Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2017 |
| publishDateRange | 2017 |
| publishDateSort | 2017 |
| publisher | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/26327 An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa Ballo, Robea Beighton, Peter Ramesar, Rajkumar Human Genetics Generalised osteoarthritis (OA) is a common disorder of the joints which can lead to pain and disability. Identification of the determinant gene(s) is limited in part by the lack of Mendelian inheritance in most forms of the disorder, the combination of genetic and environmental influences and the late development of the condition. An approach to the investigation of the aetiology of OA would be to take advantage of the monogenic basis of inherited skeletal dysplasias in which OA is a major component. For this reason, the molecular genetic basis of the epiphyseal dysplasias, which encompass a spectrum of phenotypes ranging from mild to severe skeletal involvement, is addressed in this thesis. Familial skeletal disorders in South Africa in which OA is a major feature were identified and investigated using intragenic and closely linked microsatellite markers in order to determine linkage to candidate genes. Mutational analysis was undertaken to identify the genetic defect. 2017-11-16T13:45:07Z 2017-11-16T13:45:07Z 1998 2017-04-06T14:20:41Z Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/26327 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics Ballo, Robea An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| thesis_degree_str | Doctoral |
| title | An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| title_full | An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| title_fullStr | An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| title_full_unstemmed | An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| title_short | An investigation into the molecular basis of familial forms of osteoarthropathy in South Africa |
| title_sort | investigation into the molecular basis of familial forms of osteoarthropathy in south africa |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/26327 |
| work_keys_str_mv | AT ballorobea aninvestigationintothemolecularbasisoffamilialformsofosteoarthropathyinsouthafrica AT ballorobea investigationintothemolecularbasisoffamilialformsofosteoarthropathyinsouthafrica |